Urea cycle disorders and indications for liver transplantation.

Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea. Current paradigms of treatment focus on dietary manipulations, ammonia scavenger drugs, and liver transplantation. The aim of this study was to describe the characteristics and indication of liver transplantation in UCD in a tertiary hospital. We performed a retrospective study of children with UCD seen in the period 2000-2021. Data was collected on clinical onset, hyperammonemia severity, evolution and liver transplantation. There were 33 patients in the study period, whose diagnosis were: ornithine transcarbamylase (OTC, n = 20, 10 females), argininosuccinate synthetase (ASS, n = 6), carbamylphosphate synthetase 1 (CPS1, n = 4), argininosuccinate lyase (ASL, n = 2) and N-acetylglutamate synthetase (NAGS, n = 1) deficiency. Thirty one were detected because of clinical symptoms (45% with neonatal onset). The other 2 were diagnosed being presymptomatic, by neonatal/family screening. Neonatal forms (n = 14) were more severe, all of them presented during the first week of life as severe hyperammonemia (mean peak 1,152 µmol/L). Seven patients died (6 at debut) and all survivors received transplantation. There was no mortality among the late forms. Of the 27 patients who did not die in the neonatal period, 16 (59%) received liver transplantationwith 100% survival, normal protein tolerance and usual need of citrulline supplementation. The transplant's metabolic success was accompanied by neurologic sequelae in 69%, but there was no progression of brain damage. Decision of continuous medical treatment in 11 patients appeared to be related with preserved neurodevelopment and fewer metabolic crises.

Onset of Neurological Deficit During Carotid Clamping With Carotid Endarterectomy Under Regional Anesthesia Is Not a Predictor of Carotid Restenosis.

BACKGROUND: A number of awake patients undergoing carotid endarterectomy (CEA) present from test clamp neurological deficits (NDs) during the procedure. Current guidelines advocate tighter Doppler ultrasound (DUS) surveillance in these patients because of probable higher likelihood of hemodynamic stroke (class 1 grade C), although evidence is lacking regarding benefit. The aim for the study is the assumption that patients who present ND have a higher risk of developing a complete stroke if the ipsilateral carotid artery becomes occluded, and for this reason, surveillance over restenosis of endarterectomy in this group is justifiable; hence, the authors would like to contribute to this matter presenting their experience on restenosis in this specific group of patients. METHODS: Data were prospectively collected between 2009 and 2018 for patients of a university tertiary referral center who underwent CEA under regional anesthesia and developed alterations in the neurologic monitoring during internal carotid artery (ICA) test clamping. Control patients were consecutively selected as the next patient submitted to the same procedure but who did not develop neurologic alterations. Patients who did not present to the first postoperative evaluation were excluded (4-6 weeks). Primary outcome was any restenosis (>30%; >50%; >70%) detected by DUS evaluations between 16 and 30 months of follow-up. Clinical adverse events such as stroke, myocardial infarction, acute heart failure, and all-cause death were assessed 30 days after the procedure and in the subsequent long-term surveillance period. A multivariate analysis of factors with significant associations to restenosis identified in a univariate analysis was performed by binary logistic regression. Kaplan-Meier analysis and life tables were used to evaluate time-dependent variables. RESULTS: Ninety patients with ND and 94 controls were included. Those with ND had a higher prevalence of obesity, mean age, and scores of American Society of Anesthesiologist physical status, as well as a lower mean degree of ipsilateral stenosis (82.3% vs. 85.8%, P = 0.032) and a higher mean degree of contralateral stenosis (67.8% vs. 61.1%, P = 0.030). The incidence of restenosis after 2 years did not differ significantly between groups. The univariate analysis yielded two significant associations to restenosis >50%, which remained significant after adjustment: ipsilateral stenosis (1.927 + -0.656, P = 0.02) and peripheral arterial disease (3.006 + -1.101, P = 0.048). NDs were not found to be associated to restenosis (P = 0.856). After a median follow-up period of 52 months, patients with NDs did not have a higher incidence of stroke (90.6%, standard deviation [SD]: 3.5%; ND: 91.1%, SD: 3.6%, P = 0.869), major adverse cardiovascular events (ND: 69.2%, SD: 5.5%; control, 73.6%, SD: 5.2%, P = 0.377), or all-cause death (ND: 90.6%, SD: 3.5%; control: 91.1, SD: 3.6%, P = 0.981) than controls. The presence of any restenosis was not associated with later stroke rate (ND: 89.5%, SD: 3.2%; control: 100%, P = 0.515). CONCLUSIONS: Cost-effective DUS surveillance after CEA requires the definition of evidence-based factors associated with restenosis and late stroke. The present study does not support the assumption that patients who presented NDs during the ICA test clamping present a higher risk of developing late stroke. This group of patients also did not present a higher incidence of restenosis. For these reasons, tighter DUS surveillance in this group seems not justifiable. Results from other groups are required to support this position.

Síndrome de inmunodeficiencia adquirida (SIDA) / Adcquired immunodeficiency syndrome (AIDS)

El Síndrome de Inmunodeficiencia Adquirida (SIDA) ha incidido de forma notable en los usuarios a drogas por vía parenteral (UDVP) de nuestro entorno, sobre todo en los años iniciales de la pandemia, a partir de 1981. Hasta el 60- 80% de los UDVP estaban infectados por el virus de inmunodeficiencia humana (VIH-1), y el 67% de los casos de SIDA acontecía en este colectivo. Entre las enfermedades diagnósticas de SIDA destaca en este grupo la tuberculosis, que afecta al pulmón en el 70-90% de los casos, y se presenta de forma diseminada en 40-80%. La neumonía por N. carinii incide en algo más del 20% de los casos de SIDA y otras, como la candidiasis esofágica, se presentan a continuación en un 13%. El tratamiento de los pacientes infectados por VIH se inicia cuando la cifra de linfocitos CD4 está entre 250-350 células. Existen diversas pautas terapéuticas, ya sea de inicio o tardías (de rescate). La combinación de análogos de los nucleósidos con no análogos o inhibidores de proteasas se incluye prácticamente en todas las pautas. Las medidas de prevención han disminuido notablemente la incidencia de SIDA en UDVP, destacando entre las mismas la administración de metadona y los programas de intercambio de jeringuillas. En relación con la terapéutica es importante tener en cuenta las interacciones que ésta presenta con múltiples fármacos: tuberculostáticos, metadona, buprenorfina y otros, ya que la combinación con los mismos puede hacer inefectivo el tratamiento antirretroviral (TARGA) u originar importantes efectos secundarios

The Acquired Immunodeficiency Syndrome has affected in an important way the drug users by parenteral route (IDUs) from our surroundings, mainly in the initial years of the pandemy, from 1981. Up to the 60-80% of the IDUs were infected by human immunodeficiency virus, and the 67% of the cases of AIDS happened in this collective. Amongst the diseases that make the diagnosis of AIDS stands out in this group the tuberculosis disease, which affects the lung in 70-90% of the cases and which presents in a disseminated form in 40-80% of the people. Pneumonia by Pn. Carinii appears in a bit more of the 20 % of the cases of AIDS, and other diseases, like oesophagi candidiasis, appears following the previous one in 13% of the cases. The treatment of patients infected with VIH begins when the number of CD4 lymphocytes is between 250-350 cells. There are several therapeutic guide lines, beginning or late ones (of rescue). The combination of nucleoside analogues with non-analogues or proteasa inhibitors is included in almost all the guide lines. Preventive measures have lowered in quite an important way the incidence of AIDS in IDUs, amongst this measures there stand out the administration of methadone and the programmes of syringe exchange. In relation with therapy it is important to have in mind the interactions that it presents with many drugs: tuberculostatics, methadone, buprenorphine and others, because the combination with them can make ineffective the antirretroviral treatment (HAART) or originate important secondary effects